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足蛋白podocinnephrosis 2, idiopathic, steroid-resistant)即腎臟的組成腎元腎小體內的鮑氏囊上之足細胞裂隙隔膜(slit diaphragm)的蛋白質成分。腎小球毛細血管內皮細胞腎小球基底膜及裂隙隔膜充當的腎小球濾過屏障。[1] 足蛋白基因NPHS2的突變能引起腎病症候群(NS),如局灶節段性腎小球硬化症(FSGS)或微小病變(MCD)。[2]

腎病2,特發性,類固醇抵抗性
(足蛋白)
識別
符號 NPHS2
Entrez 7827
HUGO 13394
OMIM 604766
RefSeq NM_014625
UniProt Q9NP85
其他資料
基因座 1 q25-q31

參見编辑

註釋编辑

  1. ^ George Jarad, Jeffrey H. Miner. Update on the glomerular filtration barrier. Current Opinion in Nephrology and Hypertension. 2009-5, 18 (3): 226–232 [2019-02-12]. ISSN 1473-6543. 
  2. ^ Géraldine Mollet, Julien Ratelade, Olivia Boyer, Andrea Onetti Muda, Ludivine Morisset, Tiphaine Aguirre Lavin, David Kitzis, Margaret J. Dallman, Laurence Bugeon, Norbert Hubner, Marie-Claire Gubler, Corinne Antignac, Ernie L. Esquivel. Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome. Journal of the American Society of Nephrology: JASN. 2009-10, 20 (10): 2181–2189 [2019-02-12]. ISSN 1533-3450. PMC 2754108. PMID 19713307. doi:10.1681/ASN.2009040379.